The effect of the X-monosome cell clone frequency on anthropometric variation in patients with Shereshevsky-Turner syndrome

Using methods of mathematical statistics the relationships were determined between 31 anthropometric traits (ATs) and the frequency of the X-monosome cell clone in 53 patients with either 45,X-monosomy or mosaic forms (45,X/4 6,XX) of the Shereshevsky-Turner syndrome (STS). AT variations were studied in patients untreated with growth hormone and in 25 control fertile health y women. In 29 patients, the degree of mosaicism was assessed by interphase FISH analysis using X-centromer-specific DNA probe hybridized to the cell nuclei of two types of tissues differing in embryonic origin (lymphocytes a nd oral epithelium, originating from meso- and ectoderm, respectively). The level of X-monosome mosaicism had a substantial effect on some AT, which d epended similarly on the proportion of X-monosome cells in tissues of diffe rent embryonic origin. Statistically significant negative correlations were revealed between the size of X-monosome clone and 13 height-weight, longit udinal, and circumference traits, whereas positive correlations were charac teristic of seven mostly width traits. Eleven ATs showed no correlation wit h the X-monosome cell clone. Discriminant analysis of all ATs, whose variat ions depended-on the frequency of X-monosome cell clone, was found to be an essential tool for precise classification of both STS patients with differ ent degree of mosaicism and healthy women. Based on these results, the set of ATs characteristic of the STS phenotype was identified.